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Abstract：
UNASSIGNED: Breast cancer (BC) is the most common non-skin cancer affecting women but is extremely uncommon in the adolescent population. Genetic inheritance has been linked to <10% of BCs. CHEK2 is an uncommon genetic variant with a reported incidence of 0.3-1.6% in the general population and 4.9-5.7% in those with a family history of BC. Commonly, this mutation presents in females of European descent and is rare in North America.
UNASSIGNED: A 19-year-old Caucasian female presented with breast pain and mass. She had an extensive family history of cancer, as well as a known CHEK2 gene mutation in 2 of her paternal aunts. Ultrasound and MRI confirmed a 4.5-cm mass with an enlarged right axillary lymph node. Image guided biopsy of the breast mass showed ER/PR-positive grade 1 invasive mucinous ductal cancer. Genetic testing confirmed an isolated CHEK2 mutation. After discussion by a multidisciplinary tumor board, the patient deferred bilateral mastectomy and underwent a right mastectomy with sentinel-lymph-node biopsy and immediate tissue-expander reconstruction. Final pathology confirmed ER/PR-positive Stage 1A (pT2 pN0 M0) invasive mucinous carcinoma. Chemotherapy was not recommended.
UNASSIGNED: Malignant adolescent breast masses are relatively rare and CHEK2 does not typically present at younger than 20 years of age. While there are many different differential diagnoses when evaluating an adolescent with a breast mass, we wish to increase providers\' suspicion of malignancy, specifically in those individuals who have a strong family history of BC and the CHEK2*1100delC mutation.
UNASSIGNED: A 19-year-old Caucasian female presented with breast pain and mass. She had an extensive family history of cancer, as well as a known CHEK2 gene mutation in 2 of her paternal aunts. Ultrasound and MRI confirmed a 4.5-cm mass with an enlarged right axillary lymph node. Image guided biopsy of the breast mass showed ER/PR-positive grade 1 invasive mucinous ductal cancer. Genetic testing confirmed an isolated CHEK2 mutation. After discussion by a multidisciplinary tumor board, the patient deferred bilateral mastectomy and underwent a right mastectomy with sentinel-lymph-node biopsy and immediate tissue-expander reconstruction. Final pathology confirmed ER/PR-positive Stage 1A (pT2 pN0 M0) invasive mucinous carcinoma. Chemotherapy was not recommended.
UNASSIGNED: Malignant adolescent breast masses are relatively rare and CHEK2 does not typically present at younger than 20 years of age. While there are many different differential diagnoses when evaluating an adolescent with a breast mass, we wish to increase providers\' suspicion of malignancy, specifically in those individuals who have a strong family history of BC and the CHEK2*1100delC mutation.
摘要：
未经证实：乳腺癌（BC）是影响女性的最常见的非皮肤癌，但在青少年人群中极为罕见。遗传遗传与<10％的BCs有关。CHEK2是一种罕见的遗传变异，在普通人群中报告的发病率为0.3-1.6％，在有BC家族史的人群中报告的发病率为4.9-5.7％。通常,这种突变存在于欧洲血统的女性中，在北美很少见。
未经证实：一名19岁的白人女性出现乳房疼痛和肿块。她有广泛的癌症家族史，以及她的两个姑姑中已知的CHEK2基因突变。超声和MRI证实有4.5厘米的肿块，右腋窝淋巴结肿大。图像引导下的乳腺肿块活检显示ER/PR阳性1级浸润性黏液导管癌。基因检测证实了一个分离的CHEK2突变。经过多学科肿瘤委员会的讨论，患者推迟了双侧乳房切除术,并接受了右侧乳房切除术,同时进行前哨淋巴结活检和即刻组织扩张器重建.最终病理证实ER/PR阳性1A期（pT2pN0M0）浸润性黏液癌。不推荐化疗。
未经证实：青少年乳腺恶性肿块相对罕见，CHEK2通常不存在于20岁以下。虽然在评估患有乳房肿块的青少年时，有许多不同的鉴别诊断，我们希望增加提供者对恶性肿瘤的怀疑，特别是在那些有强烈的BC家族史和CHEK2*1100delC突变的个体中。
未经证实：一名19岁的白人女性出现乳房疼痛和肿块。
未经证实：青少年乳腺恶性肿块相对罕见，CHEK2通常不存在于20岁以下。
